Archives for the month of: October, 2009

A pathway involved in language development is increasingly proving to be important in autism, suggest a series of new studies on cellular and behavioral aspects of the disorder.

Reports published in the last year, as well as preliminary data revealed last week at the Society for Neuroscience meeting in Chicago, add heft to the idea that the pathway may cause the language and other problems associated with autism.

In 1990, a letter to Nature described a large, three-generation family from London whose members had severe and distinct deficits in applying grammatical rules, and suggested “one dominant gene” as the cause. A decade later, geneticists screening the family pinpointed a gene — FOXP2, on chromosome 7 — that is mutated in family members with language impairment.

FOXP2 codes for a protein that regulates the expression of other genes. Last year, an international group of scientists identified one of its targets, contactin-associated protein-like 2 (CNTNAP2). They also found that certain common variants of CNTNAP2 tend to crop up in people with specific language impairment, a developmental disorder.

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SFARI, October 2009.

Autistic brains show high levels of inflammation compared with controls, suggests a study of postmortem brain tissue from 11 individuals with autism, presented at a poster session Monday at the Society for Neuroscience meeting in Chicago.

The researchers studied the gene expression profiles of five brains and found two distinct types: one that preferentially expresses genes controlling immune regulation, and another expressing those related to changes at synapses, the junctions between neurons.

Intriguingly, few genes are over-expressed in both types of brains as compared with healthy controls, which may speak to the heterogeneity of the disorder, says lead investigator John Allman, professor of biology at the California Institute of Technology. “There may be several routes to autism.”

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SFARI, October 2009.

Young mice that mimic fragile X syndrome — an inherited form of mental retardation often accompanied by autism — have immature and unstable dendritic spines, the neuronal branches that receive signals from other cells, according to unpublished research presented Tuesday at the Society for Neuroscience meeting in Chicago.

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SFARI, October 2009.

People born without the large bundle of nerve fibers that bridges the brain’s hemispheres have trouble identifying fearful faces, and don’t look preferentially at others’ eyes to perform this task, according to research presented Sunday at the Society for Neuroscience meeting in Chicago.

Because similar face-processing patterns are seen in people with autism, the new work bolsters the evolving, 20-year-old theory that autism stems from impaired long-range connections in the brain, says lead investigator Lynn Paul.

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SFARI, October 2009.

A gene tied to autism and language impairment is crucial for the early development and migration of inhibitory interneurons — cells that dampen the storm of electrical signals produced by the brain’s excitatory cells — according to research presented Monday at the Society for Neuroscience meeting in Chicago.

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SFARI, October 2009.

Mice carrying an autism-associated mutation show impaired social interactions and dramatic changes in brain size when their immune systems are activated, according to research presented yesterday at a poster session at the Society for Neuroscience meeting in Chicago.

The work presents one of the first examples of a gene-environment interaction in autism.

Since the early 1970s, epidemiologists have noticed that the rates of schizophrenia and autism are higher in women who contract influenza or rubella during pregnancy. Neuroscientists have also noticed high amounts of inflammation in post-mortem samples of autistic brains. Most recently, scientists have reported that children with autism tend to have a family history of autoimmune diseases such as type-1 diabetes and rheumatoid arthritis.

“I think any one of these pieces [of evidence] can be severely criticized but, together, it seems like something’s going on,” says Damon Page, a post-doctoral fellow in Mriganka Sur‘s laboratory at the Massachusetts Institute of Technology.

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SFARI, October 2009.

On Saturday, a top government official resigned from the Interagency Autism Coordination Committee (IACC), the body of scientists and advocates that’s responsible for guiding all autism research funded by the U.S. National Institutes of Health (NIH).

Story Landis, director of the U.S. National Institute of Neurological Disorders and Stroke, stepped down from the IACC after notes that she had passed to someone else at a September 30 IACC meeting were leaked to the Age of Autism blog. The blog published the text of her notes and called for her resignation.

According to the blog, Landis’s notes questioned whether Lyn Redwood, a parent member of the IACC “is pushing autism as multisystem disorder to feed into vaccine injury?”

In her letter to the other members of the committee, published by the Huffington Post Sunday, Landis wrote that her actions were “unprofessional” and “eroded trust at a time when we need to build stronger ties across government and the community.”

The next day, at the Society for Neuroscience meeting in Chicago, SFARI asked Landis’s boss, NIH head Francis Collins, for his take on the incident. Collins replied that this is “just one example of the tension and lack of trust” within the autism community.

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SFARI, October 2009.

Adolescents who carry certain common variants in a gene associated with autism — whether they have the disorder or not — show abnormal connectivity between brain regions, according to unpublished data presented today at the Society for Neuroscience meeting in Chicago.

The findings bolster the controversial ‘connectivity hypothesis’ of autism, which holds that the disorder stems from too many connections in local areas of the frontal cortex, and under-connectivity between far-reaching regions.

The study, which looks at variants of the contactin-associated protein-like 2 (CNTNAP2, dubbed ‘cat nap’) gene, is one of the first to correlate brain activity and genetic risk factors.

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SFARI, October 2009.

It’s been just over two months since Francis Collins stepped in as the new head of the U.S. National Institutes of Health (NIH).

Collins was head of the National Human Genome Research Institute for 15 years, and led the high-profile Human Genome Project, so he is no stranger to the limelight. But as head of the NIH, in charge of a $31 billion annual budget, he is a powerful man with big ambitions.

At the Society for Neuroscience meeting in Chicago today, Collins told a packed hall that one of his major goals will be “to tackle questions that have the word ‘all’ in them”: for example, what are all of the protein interactions in a cell, and what are all the ion channels in a given neuron?

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SFARI, October 2009.

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